1. Gene
  2. DPH1 - diphthamide biosynthesis 1 Gene

DPH1 - diphthamide biosynthesis 1 Gene

中文名称:双苯二甲胺生物合成 1

种属: Homo sapiens

同用名: DPH2L; OVCA1; DEDSSH; DPH2L1

基因 ID: 1801 | 基因类型: protein coding

关于 DPH1

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:2,030,112-2,043,898 (from NCBI)

This gene has 18 transcripts (splice variants), 208 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in prostate (RPKM 16.8), thyroid (RPKM 16.0) and 25 other tissues.

功能概要

由该基因编码的蛋白质是一种参与双苯二胺生物合成的酶,双苯二甲胺是一种仅在延伸因子 2 (EEF2) 中发现的修饰组氨酸。 EEF2 中的双苯二胺残基被白喉毒素和假单胞菌外毒素 A 靶向 ADP-核糖基化。该基因的缺陷与卵巢癌和常染色体隐性智力障碍伴有身材矮小、颅面和外胚层异常有关。[RefSeq 提供,2016 年 10 月]

The protein encoded by this gene is an Enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotoxin A. Defects in this gene have been associated with both ovarian Cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. [provided by RefSeq, Oct 2016]

DPH1 基因产物(4)

mRNA Protein Name
NM_001346574.1 NP_001333503.1 2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 isoform 2
NM_001346575.1 NP_001333504.1 2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 isoform 3
NM_001346576.2 NP_001333505.1 2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 isoform 4
NM_001383.6 NP_001374.4 2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 isoform 1

DPH1 蛋白结构

Diphthamide_syn

Diphthamide_syn: Putative diphthamide synthesis protein (81 - 386)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 443 a.a.
蛋白主名 其他名称

2-(3-amino-3-carboxypropyl)histidine synthase subunit 1

DPH-like 1

关联疾病

疾病名称 别名
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1

Loucks-Innes Syndrome

Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome

Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair

DEDSSH1

Diphthamide Deficiency Syndrome 1

Developmental Delay-Short Stature-Dysmorphic Features-Sparse Hair Syndrome

DEDSSH

Developmental Delay With Short Stature, Dysmorphic Features, And Sparse Hair

Dandy-Walker Syndrome

Dandy-Walker Malformation

DWS

Atresia Of Foramina Of Magendie And Luschka

Dandy-Walker Complex

Dandy-Walker Cyst

Dandy-Walker Deformity

Dandy Walker Cyst

Dw Complex

Dandy-Walker Syndrome Or Malformation

Dandy-Walker Variant

Mega Cisterna Magna

Dwm

Hydrocephalus, Internal, Dandy-Walker Type

Hydrocephalus, Noncommunicating, Dandy-Walker Type

Luschka-Magendie Foramina Atresia

Isolated Dandy-Walker Malformation

Mega-Cisterna Magna

Dandy Walker Variant

Atresia Of Foramen Of Luschka

Atresia Of Foramen Of Magendie

Congenital Blockage Of Foramen Magendie

Diphtheria

Corynebacterium Infections

Corynebacterium Infection

Diphtherial Infection

Infection Due To Corynebacterium Diphtheriae

Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive

Hydrocephalus, X-Linked

Hydrocephalus Adverse Event

Hydrocephaly Nos

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Ovarian Cancer 1

Ovarian Cancer, Susceptibility To

Ovarian Cancer, Susceptibility To, 1

OVCAS1

Ovarian Cancer

Ovarian Carcinoma

Malignant Neoplasm Of Ovary

Epithelial Ovarian Cancer

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome

Mds

MDLS

Miller Dieker Syndrome

Classical Lissencephaly Syndrome

Lissencephaly Due To 17p13.3 Deletion

Monosomy 17p13.3

Telomeric Deletion 17p

Classical Lissencephaly

Neuronopathy, Distal Hereditary Motor, Type Viii

Autosomal Dominant Congenital Benign Spinal Muscular Atrophy

HMN8

Dhmn8

Neuropathy, Distal Hereditary Motor, Type Viii

Distal Hereditary Motor Neuronopathy Type 8

Autosomal Dominant Benign Distal Spinal Muscular Atrophy

Congenital Benign Spinal Muscular Atrophy With Contractures

Congenital Nonprogressive Spinal Muscular Atrophy

Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

Spinal Muscular Atrophy, Congenital Benign, With Contractures

Distal Hereditary Motor Neuropathy Type Viii

Neuronopathy, Distal Hereditary Motor, 8

Distal Spinal Muscular Atrophy, Congenital Non-Progressive

Spinal Muscular Atrophy Congenital Benign With Contractures

Chromosome 17p13.3, Centromeric, Duplication Syndrome

Chromosome 17p13.3 Duplication Syndrome

17p13.3 Duplication Syndrome

17p13.3 Microduplication Syndrome

Trisomy 17p13.3

Chromosome 17p13.3 Centromeric Duplication Syndrome

Dup(17)(P13.3)

Craniosynostosis

Premature Closure Of Cranial Sutures

Craniostenosis

Craniosynostosis Syndrome

Cso

Craniosynostoses

Congenital Ossification Of Cranial Sutures

Congenital Ossification Of Sutures Of Skull

Craniostosis

Imperfect Fusion Of Skull

Congenital Imperfect Closure Skull

Imperfect Closure Skull

Premature Closure Cranium Sutures

Deficiency Of Craniofacial Axis

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Canis familiaris DPH1 VGNC VGNC:40067
Rattus norvegicus DPH1 RGD RGD:1562694
Macaca mulatta DPH1 VGNC VGNC:71973
Felis catus DPH1 VGNC VGNC:61596
Mus musculus DPH1 MGD MGI:2151233
Bos taurus DPH1 VGNC VGNC:28178